Gene Variant Detail

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Gene PTEN
Variant S10N
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN S10N lies within the lipid binding domain of the Pten protein (PMID: 25263454). S10N demonstrates phosphatase activity comparable to wild-type Pten (PMID: 10468583, PMID: 25263454), however, S10N results in reduced membrane localization of the Pten protein due to impaired binding with membrane lipids, and subsequently, is unable to prevent Akt signaling, cell proliferation, and cell migration and therefore, confers a loss of function to the Pten protein (PMID: 25263454, PMID: 17213812).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN S10N

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Transcript NM_000314.8
gDNA chr10:g.87864498G>A
cDNA c.29G>A
Protein p.S10N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87864498G>A c.29G>A p.S10N RefSeq GRCh38/hg38
NM_001304718.2 chr10:g.87952245G>A c.29G>A p.S10N RefSeq GRCh38/hg38
NM_000314 chr10:g.87864498G>A c.29G>A p.S10N RefSeq GRCh38/hg38
NM_001304718 chr10:g.87952245G>A c.29G>A p.S10N RefSeq GRCh38/hg38
NM_001304718.1 chr10:g.87952245G>A c.29G>A p.S10N RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87864498G>A c.29G>A p.S10N RefSeq GRCh38/hg38

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  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References